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Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating
We describe a highly disabling congenital myasthenic syndrome (CMS) associated with rapidly decaying, low-amplitude synaptic currents, and trace its cause to a valine to leucine mutation in the signature cystine loop (cys-loop) of the AChR α subunit. The recently solved crystal structure of an ACh-b...
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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
American Society for Clinical Investigation
2003
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC151927/ https://ncbi.nlm.nih.gov/pubmed/12588888 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI200316997 |
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